Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.

Also known as: congenital muscular dystrophy-POMT2 related, congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2, congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2, MDDGB2, muscular dystrophy, congenital, Pomt2-related, muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2, muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2

5 clinical trials for this condition and its sub-types, 0 tagged with Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 itself.